Shortage of energy due to leaky mitochondria — the powerhouses of cells — contributes to behavioral abnormalities in fragile X syndrome, a study has found. Closure of the leaky mitochondrial membrane with a form of a Parkinson’s disease medicine boosted energy production and reversed autism-like behaviors…
Scientists have discovered part of the mechanisms underlying synaptic plasticity — the process that allows nerve cell connections called synapses to become stronger or weaker over time — that are responsible for controlling how the brain stores information in the form of memories. According to the team, these findings…
Same But Different, a U.K. nonprofit that uses the arts to bring communities together, is holding a calendar photography competition to raise awareness for rare diseases. Under the theme “A Glimmer of Hope,” the competition is a means to “visually express the hope that exists for people affected by…
Raremark, an online rare disease patient community, has launched a digital platform called Xperiome, aimed at streamlining the search for new medicines for rare disorders and incorporating more patient input into research. The goal is to help the pharmaceutical industry deliver innovative new therapies faster and smarter, the…
Better communication among different institutions is needed to assist young patients with fragile X syndrome make the transition from school into adult life, according to a small study. Support programs for youth with fragile X lack continuity and complementarity, the results indicated. The study, “Factors Impacting…
The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…
Having fewer primary cilia — cellular structures that act like antennas to detect several signals — in nerve cells may contribute to learning and memory deficits in fragile X syndrome, according to a study in mice. These findings suggest that therapeutic approaches designed to increase the number of these…
When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience. Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children…
Investigators at the Mercer University’s College of Pharmacy were awarded almost $425,000 in three-year funding to advance work into serotonin receptors as potential targets for preventing seizures in people with fragile X syndrome, according to a university news story. The R15 grant is funded by the…
The experimental cannabidiol (CBD) gel Zygel eased behavioral problems in children with fragile X syndrome and benefited those with greater disease severity according to their caregivers, new clinical trial data show. The data were presented virtually at the 17th NFXF International Fragile X Conference Research Roundup by…
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